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Neurodevelopment
- MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndromeKohji Kato, Fuyuki Miya, Nanako Hamada, Yutaka Negishi, Yoko Narumi-Kishimoto, Hiroshi Ozawa, Hidenori Ito, Ikumi Hori, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Yonehiro Kanemura, Kenjiro Kosaki, Yoshiyuki Takahashi, Koh-ichi Nagata, Shinji SaitohJournal of Medical Genetics Jun 2019, 56 (6) 388-395; DOI: 10.1136/jmedgenet-2018-105487
- Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, C Ellie Wilson, Joo Wook Ahn, Dimitri J Stavropoulos, Clodagh M Murphy, Peggy S Eis, Eli Hatchwell, Richard J B Dobson, Dene Robertson, Muriel Holder, Melita Irving, Dragana Josifova, Annelise Nehammer, Mina Ryten, Debbie Spain, Mark Pitts, Jessica Bramham, Philip Asherson, Sarah Curran, Evangelos Vassos, Gerome Breen, Frances Flinter, Caroline Mackie Ogilvie, David A Collier, Stephen W Scherer, Grainne M McAlonan, Declan G MurphyJournal of Medical Genetics Aug 2016, 53 (8) 536-547; DOI: 10.1136/jmedgenet-2015-103621
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